Researchers recently broke new ground in finding the genetic causes of mental illness, identifying a specific region in the genome associated with schizophrenia, bipolar disorder, and autism.

An international team, led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory, has discovered a mutation on human chromosome 16 that is a potent risk factor.

“This type of genetic variation is called copy number variation,” Sebat explains. “It means that instead of having differences in sequence, you have a deletion or a duplication of a whole gene or genomic region. It’s not a mutation; it’s extra copies of a gene. So the dosage of the gene changes, rather than the sequence.”

Specifically, Sebat and his team found that a duplication in copy number variation predisposes someone to schizophrenia and bipolar disorder – and a decrease in CNV is associated with autism.

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